Ann Neurol
Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Published: February 2021
Advances in genetic discoveries have created substantial opportunities for precision medicine in neurodevelopmental disorders. Many of the genes implicated in these diseases encode proteins that regulate gene expression, such as chromatin-associated proteins, transcription factors, and RNA-binding proteins. The identification of targeted therapeutics for individuals carrying mutations in these genes remains a challenge, as the encoded proteins can theoretically regulate thousands of downstream targets in a considerable number of cell types. Here, we propose the application of a drug discovery approach originally developed for cancer called "transcriptome reversal" for these neurodevelopmental disorders. This approach attempts to identify compounds that reverse gene-expression signatures associated with disease states. ANN NEUROL 2021;89:199-211.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8122510 | PMC |
http://dx.doi.org/10.1002/ana.25950 | DOI Listing |
Brain Struct Funct
January 2025
Applied Psychology, Faculty of Education, University of Western Ontario, 1137 Western Rd, London, ON, N6G 1G7, Canada.
Children and adolescents with neurodevelopmental disorders such as autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) may be more susceptible to early life stress compared to their neurotypical peers. This increased susceptibility may be linked to regionally-specific changes in the striatum and amygdala, brain regions sensitive to stress and critical for shaping maladaptive behavioural responses. This study examined early life stress and its impact on striatal and amygdala development in 62 children and adolescents (35 males, mean age = 10.
View Article and Find Full Text PDFJ Appl Res Intellect Disabil
January 2025
College of Public Health Medical and Veterinary Sciences, James Cook University, Townsville, Australia.
Background: Sexual well-being significantly impacts the overall quality of life for individuals with and without intellectual disabilities. Notably, parents play a pivotal role in influencing their children's sexual development, and their attitudes towards this topic are shaped by Chinese sociocultural values.
Methods: This study employed Interpretative phenomenological analysis to explore the experiences and attitudes of five individuals with intellectual disabilities and seven parents/caregivers regarding the sexual needs of their adult offspring with intellectual disabilities.
Int J Lang Commun Disord
January 2025
Division of Communication Sciences and Disorders, University of Cape Town, Rondebosch, South Africa.
Background: There is a global need for synthetic speech development in multiple languages and dialects, as many children who cannot communicate using their natural voice struggle to find synthetic voices on high-technology devices that match their age, social and linguistic background.
Aims: To document multiple stakeholders' perspectives surrounding the quality, acceptability and utility of newly created synthetic speech in three under-resourced South African languages, namely South African English, Afrikaans and isiXhosa.
Methods & Procedures: A mixed methods research design was selected.
Sensors (Basel)
December 2024
College of Information Science and Engineering, Hunan Normal University, Changsha 410081, China.
Early detection of autism spectrum disorder (ASD) is particularly important given its insidious qualities and the high cost of the diagnostic process. Currently, static functional connectivity studies have achieved significant results in the field of ASD detection. However, with the deepening of clinical research, more and more evidence suggests that dynamic functional connectivity analysis can more comprehensively reveal the complex and variable characteristics of brain networks and their underlying mechanisms, thus providing more solid scientific support for computer-aided diagnosis of ASD.
View Article and Find Full Text PDFCancers (Basel)
January 2025
Sophia, Department of General Pediatrics, Erasmus MC, 3015 GD Rotterdam, The Netherlands.
Background: Plexiform neurofibromas (PNs) are histologically benign peripheral nerve sheath tumors associated with neurofibromatosis type 1 (NF1) and often lead to significant morbidity due to growth. Management includes watchful waiting, surgery for partial debulking, and, since recently, systemic treatment with MEK inhibitors. However, due to the scarcity of natural history studies, our understanding of the natural progression of PNs to guide clinicians in deciding in whom and when to intervene is scarce.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!
© LitMetric 2025. All rights reserved.